{"Name":"Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency","DiseaseID__c":"GARD:0003161","id":3161,"encodedName":"glycogen-storage-disease-due-to-lactate-dehydrogenase-h-subunit-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency","Xref_IDs__c":"C3279904; C563641; MEDGEN:481534; MONDO:0013587; OMIM:614128; ORPHA:284435","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013587","Disease_Description__c":"A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner.","GARD_Name__c":"Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency","GARD_Synonym__c":"glycogenosis due to lactate dehydrogenase h-subunit deficiency; gsd due to lactate dehydrogenase h-subunit deficiency; lactate dehydrogenase b deficiency; lactate dehydrogenase-b deficiency; ldh-h subunit deficiency","Curated_Disease_Description_Source__c":"GARD:0003161","Curated_Disease_Description__c":"Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency is a condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with glycogen storage disease due to lactate dehydrogenase H-subunit deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency is caused by genetic changes in the LDHB gene and is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:284435","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013587","ORPHANET_ID__c":"ORPHA:284435","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de almacenamiento de glucógeno por deficiencia de la subunidad h de la lactato deshidrogenasa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de almacenamiento de glucógeno por deficiencia de la subunidad h de la lactato deshidrogenasa","Spanish_GARD_Synonym__c":"deficiencia de la subunidad h-ldh; deficiencia de lactato deshidrogenasa b; glucogenosis por deficiencia de la subunidad h de la lactato deshidrogenasa; gsd por deficiencia de la subunidad h de la lactato deshidrogenasa","Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency is a condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with glycogen storage disease due to lactate dehydrogenase H-subunit deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency is caused by genetic changes in the LDHB gene and is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0003161","GARD_Synonym__c":"glycogenosis due to lactate dehydrogenase h-subunit deficiency; gsd due to lactate dehydrogenase h-subunit deficiency; lactate dehydrogenase b deficiency; lactate dehydrogenase-b deficiency; ldh-h subunit deficiency","Name":"Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Muscular Dystrophy UK","Website__c":"https://www.musculardystrophyuk.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:284435"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3279904"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003161","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563641","Source__c":"MONDO:0013587","Xref__c":"C563641"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=481534","Source__c":"C3279904","Xref__c":"MEDGEN:481534"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3279904","Source__c":"C3279904","Xref__c":"C3279904"},{"URL__c":"https://www.omim.org/entry/614128","Source__c":"C3279904; MONDO:0013587; ORPHA:284435","Xref__c":"OMIM:614128"},{"URL__c":"https://www.orpha.net/en/disease/detail/284435","Source__c":"C3279904; MONDO:0013587; ORPHA:284435","Xref__c":"ORPHA:284435"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013587","Source__c":"GARD:0003161","Xref__c":"MONDO:0013587"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LDHB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ldhb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614128","Feature__r":{"HPO_Description__c":"Concentration of lactate dehydrogenase in the blood circulation below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045041","HPO_Name__c":"Reduced circulating lactate dehydrogenase concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics"]},"synonyms":["glycogenosis due to lactate dehydrogenase h-subunit deficiency"," gsd due to lactate dehydrogenase h-subunit deficiency"," lactate dehydrogenase b deficiency"," lactate dehydrogenase-b deficiency"," ldh-h subunit deficiency"]}